Shwachman-Diamond syndrome
Findings
No curated finding names Shwachman-Diamond syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.
Definition from the Mondo Disease Ontology (MONDO:0009833), read 2026-09-29. CC BY 4.0.
Features
69 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormality of blood and blood-forming tissuesHPOHP:0001871
- Very frequent (80% to 99% of cases)
- Abnormality of the gastrointestinal tractHPOHP:0011024
- Very frequent (80% to 99% of cases)
- Abnormality of the skeletal systemHPOHP:0000924
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- Decreased total neutrophil countHPOHP:0001875
- Very frequent (80% to 99% of cases)
- Exocrine pancreatic insufficiencyHPOHP:0001738
- Very frequent (80% to 99% of cases)
- Fat malabsorptionHPOHP:0002630
- Very frequent (80% to 99% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin D concentrationHPOHP:0100512
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin E concentrationHPOHP:0100513
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin K concentrationHPOHP:0011892
- Frequent (30% to 79% of cases)
- Delayed skeletal maturationHPOHP:0002750
- Frequent (30% to 79% of cases)
Show the remaining 57
- Failure to thriveHPOHP:0001508
- Frequent (30% to 79% of cases)
- Growth delayHPOHP:0001510
- Frequent (30% to 79% of cases)
- HypoamylasemiaHPOHP:0410289
- Frequent (30% to 79% of cases)
- Impaired neutrophil chemotaxisHPOHP:0040238
- Frequent (30% to 79% of cases)
- Increased mean corpuscular volumeHPOHP:0005518
- Frequent (30% to 79% of cases)
- Increased serum bile acid concentrationHPOHP:0012202
- Frequent (30% to 79% of cases)
Genes
5 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SBDSHGNC:19440
- Definitive · ClinGen · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
- SRPRAHGNC:11307
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- DNAJC21HGNC:27030
- Supportive · Orphanet · Autosomal recessive · 2021
- EFL1HGNC:25789
- Supportive · Orphanet · Autosomal recessive · 2021
- EIF6HGNC:6159
- Limited · Franklin by Genoox · Autosomal dominant · 2020
Where it sits
Other names
7 names
Resolves to: Shwachman-Diamond syndrome
- Also called
- pancreatic insufficiency and bone marrow dysfunctionSchwachman-Diamond syndromeSchwachmann-Diamond syndromeSDSShwachman Diamond SyndromeShwachman syndromeShwachman-Bodian-Diamond syndrome